NKX6-2 Disease in Two Unrelated Patients with Early-Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy

Recently, biallelic variants in NKX6-2 have been reported to cause central nervous system hypomyelination. Clinical presentation of previously reported patients included two distinct phenotypes: a neonatal-onset with severe presentation, and a milder childhood-onset form. To date, there have been 40 individuals in 24 unrelated families from different ethnic backgrounds, due to 16 distinct variants identified by whole exome sequencing. We report …